Citations for
1ALOX12B, NCIE3B, TGM1
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML.
Arch Dermatol 144(3):351-6.PMID: 18347291 2008
2ALOX12B, NCIE3B
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J.
J Invest Dermatol 127(4):829-34. Epub 2006 Nov 30. 2007
3ALOX12B, NCIE3B
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.
Ashoor G, MassŽ M, Garc’a Luciano LM, Sheffer R, Martinez-Mir A, Christiano AM, Zlotogorski A.
Br J Dermatol 155(1):198-200. No abstract available. 2006
4ALOX12B, ALOXE3, ARCI3, NCIE3B
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Eckl KM, Krieg P, Kuster W, Traupe H, Andre F, Wittstruck N, Furstenberger G, Hennies HC.
Hum Mutat 26(4):351-61. 2005
5ALOX12B, ALOXE3, ARCI3, NCIE3B
Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.
Yu Z, Schneider C, Boeglin WE, Brash AR.
Biochim Biophys Acta 1686 3:238-47. 2005
6ALOX12B, ALOXE3, ARCI3, NCIE3B
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
Jobard F, Lefevre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J.
Hum Mol Genet 11(1):107-13. 2002